{"id":38713,"date":"2019-09-24T07:35:28","date_gmt":"2019-09-24T11:35:28","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38713-2\/"},"modified":"2024-01-29T09:58:57","modified_gmt":"2024-01-29T14:58:57","slug":"38713-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38713-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique<\/strong><\/h2>\n<p>Article de recherche original de B. O&#8217;Roak <em>et al.<\/em> (2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23160955\">ici<\/a>.<\/p>\n<p>Les chercheurs ont proc\u00e9d\u00e9 au s\u00e9quen\u00e7age de l&#8217;exome entier des membres de 209 familles (677 personnes) qui ont particip\u00e9 \u00e0 la collection Simons Simplex de la Fondation Simons, qui comprend des enfants atteints d&#8217;autisme et de d\u00e9ficience intellectuelle. L&#8217;\u00e9tude a permis d&#8217;identifier plus de 100 nouveaux g\u00e8nes susceptibles d&#8217;\u00eatre li\u00e9s \u00e0 un retard de d\u00e9veloppement, \u00e0 une d\u00e9ficience intellectuelle ou \u00e0 des caract\u00e9ristiques de l&#8217;autisme. Au d\u00e9part, des modifications de deux <em>g\u00e8nes<\/em> seulement <em>&#8211; CDH8<\/em> et <em>NTNG1 &#8211; ont \u00e9t\u00e9<\/em> trouv\u00e9es chez plus d&#8217;une personne. Une analyse plus pouss\u00e9e de <em>FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2<\/em> et <em>GRIN2A<\/em> a r\u00e9v\u00e9l\u00e9 des changements suppl\u00e9mentaires dans <em>GRIN2B, LAMC3<\/em> et <em>SCN1A<\/em>. Plusieurs modifications nocives de novo (non h\u00e9rit\u00e9es de l&#8217;un ou l&#8217;autre parent) de <em>CHD8<\/em> ont \u00e9t\u00e9 identifi\u00e9es dans les \u00e9chantillons, alors qu&#8217;aucune modification nocive n&#8217;a \u00e9t\u00e9 identifi\u00e9e dans plus de 3 000 \u00e9chantillons de contr\u00f4le.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique Article de recherche original de B. O&#8217;Roak et al. (2012). Lire le r\u00e9sum\u00e9 ici. Les chercheurs ont proc\u00e9d\u00e9 au s\u00e9quen\u00e7age de l&#8217;exome entier des membres de 209 familles (677 personnes) qui ont particip\u00e9 \u00e0 la collection Simons Simplex [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38713"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38713"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38713\/revisions"}],"predecessor-version":[{"id":38717,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38713\/revisions\/38717"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38713"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}